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BACKGROUND: Real-world studies about the effectiveness and safety of vedolizumab (VDZ) in the treatment of inflammatory bowel disease (IBD) in Latin America are scarce. Our study describes the effectiveness and safety of VDZ in Colombian patients with IBD. METHODS: EXVEDOCOL (EXperience of VEDOlizumab in COLombia) was a retrospective, multicenter, observational study. Adults with IBD receiving a first dose of VDZ between July 2016 and October 2018 were included. The co-primary outcomes clinical response, and remission, were determined at week 14 and last visit during the maintenance phase (LVMP). The secondary outcomes, deep remission and loss of response were recorded at LVMP. RESULTS: Thirty-one patients (25 ulcerative colitis (UC), 6 Crohn's disease (CD)) were included. At week 14, clinical response was achieved by 87.1% (27/31) of the patients treated with VDZ, while loss of response was reported in 6.7% (2/30). The remission rate at week 14 was 65.5% (19/29) and 75.9% (22/29) at LVMP. Prior anti-TNF exposure was reported in 61.3% (19 patients) of whom 84.2% (16/19) achieved clinical response at week 14 and 89.5% (17/19) at LVMP. For anti-TNF naïve patients, clinical response was recorded in 91.7% (11/12) at week 14 and 100% (12/12) at LVMP. CONCLUSIONS: High clinical remission rates and safety profile highlight VDZ as a valuable treatment option for IBD patients. Anti-TNF naïve patients may derive greater benefit from therapy. Studies with larger cohorts could confirm these findings.

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The reproductive mode of viviparity has independently evolved in various animal taxa. It refers to the condition in which the embryos or young develop inside the female's body during gestation, providing advantages such as protection, nutrition, and improved survival chances. However, parasites and diseases can be an evolutionary force that limit the host's resources, leading to physiological, morphological, and behavioral changes that impose additional costs on both the pregnant female and her offspring. This review integrates the primary literature published between 1980 and 2021 on the parasitism of viviparous hosts. We describe aspects such as reproductive investment in females, offspring sex ratios, lactation investment in mammals, alterations in birth intervals, current reproductive investment, variations between environments, immune system activity in response to immunological challenges, and other factors that can influence the interaction between viviparous females and parasites. Maintaining pregnancy incurs costs in managing the mother's resources and regulating the immune system's responses to the offspring, while simultaneously maintaining an adequate defense against parasites and pathogens. Parasites can significantly influence this reproductive mode: parasitized females adjust their investment in survival and reproduction based on their life history, environmental factors, and the diversity of encountered parasites.

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Introduction: There is no clarity about manometric findings in patients with proctalgia fugax; evidence shows different results. This study aims to evaluate dyssynergic defecation through anorectal manometry in Colombian patients in two gastroenterology centers in Bogotá, Colombia. Materials and methods: A cross-sectional descriptive observational study in adult patients with proctalgia fugax undergoing anorectal manometry and treated in two gastroenterology centers in Bogotá between 2018 and 2020. Results: 316 patients were included, predominantly women (65%), with a median age of 45.2 (range: 18-78; standard deviation [SD]: 28.3). Four percent of patients had hypertonicity, 50% were normotonic, and 46% were hypotonic. Regarding manometric parameters, 50% had normal pressure, and 46% had anal sphincter hypotonia; 76% had a normal voluntary contraction test. Dyssynergic defecation was documented in 5% of patients, and the most frequent was type I, followed by type III. A rectoanal inhibitory reflex was identified in all patients, 42% with altered sensory threshold and 70% with abnormal balloon expulsion. There was an agreement between the results of the anorectal manometry and the subjective report of the digital rectal exam by the head nurse who performed the procedure. Conclusions: The data obtained in the present study suggest that proctalgia is not related to the elevated and sustained basal contracture of the sphincter but neither to the alteration in voluntary contraction since most patients have typical values.

Introducción: Actualmente, no hay claridad acerca de los hallazgos manométricos en pacientes con proctalgia fugaz, y la evidencia muestra diferentes resultados. Se plantea como objetivo en el presente estudio evaluar la presencia de disinergia defecatoria con manometría anorrectal en pacientes colombianos en dos centros de gastroenterología en Bogotá, Colombia. Metodología: Estudio observacional descriptivo de corte transversal en pacientes adultos sometidos a manometría anorrectal con proctalgia fugaz y atendidos en dos centros de gastroenterología de la ciudad de Bogotá entre el 2018 y el 2020. Resultados: Se incluyó a 316 pacientes, predominantemente mujeres (65%), con mediana de edad 45,2 (rango: 18-78; desviación estándar [DE]: 28,3). El 4% de los pacientes presentaban hipertonicidad, el 50% eran normotónicos y el 46%, hipotónicos. En cuanto a parámetros manométricos, el 50% tenía presión normal y el 46%, hipotonía de esfínter anal. El 76% tuvo una prueba de contracción voluntaria normal. En 5% pacientes se documentó disinergia defecatoria, y la más frecuente fue el tipo I, seguido del tipo III. En todos los pacientes se identificó reflejo recto anal inhibitorio, 42% con alteración en umbral sensitivo y 70% con expulsión de balón anormal, y hubo concordancia entre los resultados de la manometría anorrectal y el reporte subjetivo del tacto rectal de la jefe de enfermería que realizó el procedimiento. Conclusiones: Los datos obtenidos en el presente estudio sugieren que la proctalgia no está relacionada con la contractura basal elevada y sostenida del esfínter, pero tampoco con la alteración en la contracción voluntaria, ya que la mayoría de los pacientes presentan valores normales.

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Introduction: Anal squamous cell carcinoma is rare, but its incidence and mortality have been increasing globally; 90% of cases are related to human papillomavirus (HPV) infection(1,2). Patients with inflammatory bowel disease (IBD) have a higher risk of infection with this virus; an incidence of 5.5 per 100,000 patients has been identified in the IBD group compared to 1.8 in the non-IBD group(3). Materials and methods: A descriptive case series study was conducted with 21 patients with IBD and no perianal symptoms between January and July 2022 at the Institute of Coloproctology in Medellín. They underwent anal cytology, HPV genotyping, and high-resolution anoscopy after explanation and acceptance of the procedure. If lesions were found, ablative treatment was performed. Results: 23% of this cohort had low-grade squamous lesions, while 14.2% had high-grade lesions with dysplasia changes during anoscopy. Besides, 90.4% had positive HPV genotyping, of which 76.1% were high-grade. Conclusions: Our study suggests that this series of patients with IBD behaves as a high-risk group for developing premalignant lesions in association with HPV. High-resolution anoscopy is a cost-effective, painless, and affordable method that, in expert hands, may impact the diagnosis and management of premalignant lesions and decrease the incidence of anal cancer in patients with IBD.

Introducción: El carcinoma anal de células escamosas es raro, pero su incidencia y mortalidad han ido en aumento globalmente. El 90% de los casos están relacionados con la infección por el virus del papiloma humano (VPH)1,2 y los pacientes con enfermedad inflamatoria intestinal (EII) tienen un mayor riesgo de infección por este virus; se ha identificado una incidencia de 5,5 por 100.000 pacientes en el grupo de EII frente a 1,8 en el grupo sin EII3. Metodología: Se realizó un estudio descriptivo de serie de casos en el que se incluyó a 21 pacientes con EII, sin síntomas perianales, entre enero y julio de 2022 en el Instituto de Coloproctología de Medellín, a quienes se les realizó citología anal, genotipificación del VPH y anoscopia de alta resolución, previa explicación y aceptación del procedimiento. Si se encontraban lesiones, se realizaba tratamiento ablativo. Resultados: El 23% de esta cohorte tenía lesiones escamosas de bajo grado, mientras que el 14,2% presentaba lesiones de alto grado con cambios de displasia al momento de la anoscopia. El 90,4% tenían genotipificación positiva para VPH, de los cuales el 76,1% eran de alto grado. Conclusiones: Nuestro estudio sugiere que esta serie de pacientes con EII se comporta como un grupo de alto riesgo para desarrollar lesiones premalignas en asociación con el VPH. La anoscopia de alta resolución es un método rentable, indoloro y asequible que, en manos expertas, puede impactar el diagnóstico y manejo de lesiones premalignas y disminuir la incidencia de cáncer anal en pacientes con EII.

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BACKGROUND: Epidermoid cysts are rare benign lesions that originate from remnants of ectodermal epithelial tissue, particularly infrequent in the pediatric population. They exhibit characteristic imaging features, with occasional variations leading to the development of a "white" epidermoid cyst. This transformation results from the presence of protein and lipid material within the cyst, causing intrinsic hyperintensity in T1-weighted images, signal hypointensity in T2-weighted images, and a bright signal in diffusion-weighted imaging. CASE PRESENTATION: We describe the case of a 5-year-old Latina pediatric patient initially diagnosed with a typical epidermoid cyst. After 13 years of follow-up, this typical epidermoid cyst underwent a transformation, becoming a "white" epidermoid cyst. CONCLUSIONS: Epidermoid cysts are rare intracranial lesions. The term "white epidermoid cyst" does not denote a variant; it represents a distinct transformation within an epidermoid cyst due to liquid and protein accumulation. This transformation should be considered in cases with specific imaging characteristics.

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BACKGROUND: Skin aging is a gradual cumulative process that may be accelerated by various exposome factors. AIMS: To investigate associations between exposome factors and facial skin aging in 11 locations in Argentina. PATIENTS/METHODS: An observational, cross-sectional study with assessments by exposome questionnaire, Glogau photoaging classification from I to IV, AI-based algorithm analysis of 7 skin aging signs, and SCINEXA score. RESULTS: Of 1346 participants, most were women (82%), aged 31-50 years (62%), of skin phototype III (52%), and living in urban areas (94%). The Glogau skin age was higher than the chronological age for 28% of overall participants, 36% of men, and 45% of participants from Ciudad de Buenos Aires versus 12% from Jujuy (p < 0.001). Being male (OR = 1.59; 95% CI 1.18-2.13), exposed to agrochemicals (OR = 1.59: 95% CI 1.01-2.51), of lower socioeconomic levels (OR = 2.06; 95% CI 1.32-3.21) and doing outdoor physical activity (OR = 1.33; 95% CI 1.00-1.76) increased the risk for premature aging. Odds decreased with high daily intake of water (OR = 0.76; 95% CI 0.59-0.97), daily dermocosmetic use (moisturizers [OR = 0.72; 95% CI 0.55-0.94], cleansers [OR = 0.53; CI 95% 0.42-0.67], retinoids [OR = 0.61; 95% CI 0.39-0.95]), and antiaging treatments (OR = 0.74; 95% CI 0.57-0.97). CONCLUSIONS: Some exposome factors increased the risk for premature skin aging (physical outdoor activity, exposure to agrochemicals), while others were protective factors (high water intake, antiaging treatments, use of dermocosmetics). Locations with higher pollution levels had more premature skin aging.

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BACKGROUND: Diabetic retinopathy (DR) is an important cause of decreased visual acuity, whose prevalence has increased between 1990 and 2020. In Chile the prevalence of diabetic retinopathy was estimated at 24.8%. AIM: To assess the prevalence of DR in a southern Chilean city. MATERIAL AND METHODS: From a database of diabetic patients attending primary health care centers at Puerto Montt, Chile, 196 patients with DR and 392 patients without DR, matched by age and presence of chronic complications, were chosen for this case-control study. RESULTS: The prevalence of DR in the database of diabetic patients was 33.3%. glycated hemoglobin, the frequency insulin use, systolic blood pressure, HDL cholesterol, microalbuminuria, and proteinuria were significantly worse in cases. A multivariate analysis showed that retinopathy is much more likely to occur when the variables insulin use, neuropathy, and microalbuminuria concur. CONCLUSIONS: DR was associated with worse metabolic parameters and the presence of neuropathy in this case control study.

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In Colombia there are no data about perception of quality of life (QoL) in inflammatory bowel disease (IBD). The aim of this study was to determine the perception of QoL by means of the IBDQ-32 questionnaire in patients with IBD from a sample of patients from different referral centers. We carried out a cross-sectional study in adults with IBD in clinical remission, in outpatient follow-up, in 3 institutions in different cities, between June 2022 and November 2022, eligible subjects were identified, information was collected on different dates, about socio-demographic and clinical aspects, and the IBDQ-32 questionnaire was evaluated on one occasion. Descriptive and analytical analysis of the variables evaluated was performed. 80 patients, 70% women, mean age 38.5(range 18-72; SD 13.25) years. 67.5% ulcerative colitis (UC), 32.5% Crohn's disease (CD). Moderate QoL involvement (median 150 points, interquartile range118.3-181.5) was found in IBD, in UC median 151 (interquartile range120-174.75) points, while in CD 133 (interquartile range106.25-186.25) points. There was greater involvement in the systemic domain, with median 21 (interquartile range 15.8-27) points, and 18.5 (interquartile range 12.8-25.3) points, for UC and CD, respectively. The least affected corresponded to the digestive domain and social function, in median UC 48.5 (interquartile range 40-58.3), and 27(interquartile range 20.8-33); in median CD 43 (interquartile range 35.5-61.75) and 24.5(interquartile range 18-32.5), respectively. No statistically significant differences were found. This study provides unique information about QoL of patients with IBD in Colombia. It is necessary to continue reinforcing the accompaniment, support, and education of patients with IBD.

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Background: Genetic interindividual variability is associated with adverse drug reactions (ADRs) and affects the response to common drugs used in anesthesia. Despite their importance, these variants remain largely underexplored in Latin-American countries. This study describes rare and common variants found in genes related to metabolism of analgesic and anaesthetic drug in the Colombian population. Methods: We conducted a study that included 625 Colombian healthy individuals. We generated a subset of 14 genes implicated in metabolic pathways of common medications used in anesthesia and assessed them by whole-exome sequencing (WES). Variants were filtered using two pipelines: A) novel or rare (minor allele frequency-MAF <1%) variants including missense, loss-of-function (LoF, e.g., frameshift, nonsense), and splice site variants with potential deleterious effect and B) clinically validated variants described in the PharmGKB (categories 1, 2 and 3) and/or ClinVar databases. For rare and novel missense variants, we applied an optimized prediction framework (OPF) to assess the functional impact of pharmacogenetic variants. Allelic, genotypic frequencies and Hardy-Weinberg equilibrium were calculated. We compare our allelic frequencies with these from populations described in the gnomAD database. Results: Our study identified 148 molecular variants potentially related to variability in the therapeutic response to 14 drugs commonly used in anesthesiology. 83.1% of them correspond to rare and novel missense variants classified as pathogenic according to the pharmacogenetic optimized prediction framework, 5.4% were loss-of-function (LoF), 2.7% led to potential splicing alterations and 8.8% were assigned as actionable or informative pharmacogenetic variants. Novel variants were confirmed by Sanger sequencing. Allelic frequency comparison showed that the Colombian population has a unique pharmacogenomic profile for anesthesia drugs with some allele frequencies different from other populations. Conclusion: Our results demonstrated high allelic heterogeneity among the analyzed sampled, enriched by rare (91.2%) variants in pharmacogenes related to common drugs used in anesthesia. The clinical implications of these results highlight the importance of implementation of next-generation sequencing data into pharmacogenomic approaches and personalized medicine.

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BACKGROUND: The association of low-normal thyroid function (LNTF) with non-alcoholic fatty liver disease (NAFLD) or metabolic dysfunction-associated fatty liver disease (MAFLD) is controversial; thus, the aim of this study is to determine this association. METHODS: NAFLD was evaluated by controlled attenuation parameter of transient elastography. Patients were classified by MAFLD criteria. LNTF was defined as TSH levels of 2.5 to 4.5 mIU/L and were divided into three different cut-off points (>4.5 to 5.0, >3.1, and >2.5 mIU/L). Associations between LNTF, NAFLD, and MAFLD were evaluated by univariate and multivariate logistic regression analyses. RESULTS: A total of 3697 patients were included; 59% (n = 2179) were male, and median age and body mass index were 48 (43-55) years and 25.9 (23.6-28.5) kg/m2, respectively, and 44% (n = 1632) were diagnosed with NAFLD. THS levels of 2.5 and 3.1 showed significant associations with the presence of NAFLD and MAFLD; however, LNTF did not show an independent association with the presence of NAFLD or MAFLD in multivariate analysis. According to different cut-off points, patients with LNTF presented similar risks for NAFLD as the general population. CONCLUSION: LNTF is not associated with NAFLD or MAFLD. Patients with high LNTF are equally at risk for NAFLD as the general population.

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En Colombia no hay datos acerca de la percepción de la calidad de vida (CdV) en enfermedad infamatoria intestinal (EII). Se plantea como objetivo determinar la percepción de la CdV mediante el cuestionario IBDQ-32 en pacientes con EII a partir de una muestra de pacientes de diferentes centros de referencia. Se realizó un estudio de corte transversal en adultos, con EII en remisión clínica, en seguimiento ambulatorio, en 3 instituciones en diferentes ciudades, entre junio 2022 a noviembre 2022, se identificaron sujetos elegibles, se recolectó información en fechas distintas, acerca aspectos sociodemográficos y clínicos, se evaluó el cuestionario IBDQ-32 en una ocasión y se realizó análisis descriptivo y analítico de las variables evaluadas. Como resultado, se obtuvieron 80 pacientes, 70% mujeres, edad media 38,5 (rango18-72; SD 13,25) años. 67,5% colitis ulcerosa (CU), 32,5% enfermedad de Crohn (EC). Se encontró compromiso moderado de la CdV (mediana 150 puntos, rango-intercuartílico 118,3-181,5) en EII, en CU mediana 151 (rango-intercuartílico 120-174,75) puntos, mientras en EC 133(rango-intercuartílico 106,25-186,25) puntos. Hubo mayor afección en dominio sistémico, con medianas 21 (rango-intercuartílico 15,8-27) puntos, y 18,5 (rango-intercuartílico 12,8-25,3) puntos, para CU y EC, respectivamente. Y, los menos afectados correspondieron al dominio digestivo y función social, en CU medianas 48,5 (rango-intercuartílico 40-58,3), y 27 (rango-intercuartílico 20,8-33); en EC medianas 43 (rango-intercuartílico 35,5-61,75) y 24,5 (rango-intercuartílico 18-32,5), respectivamente. No se encontraron diferencias estadísticamente significativas. Este estudio aporta información única acerca CdV de los pacientes con EII en Colombia. Se requiere seguir reforzando el acompañamiento, apoyo, y educación a los pacientes con EII.

In Colombia there are no data about perception of quality of life (QoL) in inflammatory bowel disease (IBD). The aim of this study was to determine the perception of QoL by means of the IBDQ-32 questionnaire in patients with IBD from a sample of patients from different referral centers. We carried out a cross-sectional study in adults with IBD in clinical remission, in outpatient follow-up, in 3 institutions in different cities, between June 2022 and November 2022, eligible subjects were identified, information was collected on different dates, about socio-demographic and clinical aspects, and the IBDQ-32 questionnaire was evaluated on one occasion. Descriptive and analytical analysis of the variables evaluated was performed. 80 patients, 70% women, mean age 38.5(range 18-72; SD 13.25) years. 67.5% ulcerative colitis (UC), 32.5% Crohn´s disease (CD). Moderate QoL involvement (median 150 points, interquartile range118.3-181.5) was found in IBD, in UC median 151 (interquartile range120-174.75) points, while in CD 133 (interquartile range106.25-186.25) points. There was greater involvement in the systemic domain, with median 21 (interquartile range 15.8-27) points, and 18.5 (interquartile range 12.8-25.3) points, for UC and CD, respectively. The least affected corresponded to the digestive domain and social function, in median UC 48.5 (interquartile range 40-58.3), and 27(interquartile range 20.8-33); in median CD 43 (interquartile range 35.5-61.75) and 24.5(interquartile range 18-32.5), respectively. No statistically significant differences were found. This study provides unique information about QoL of patients with IBD in Colombia. It is necessary to continue reinforcing the accompaniment, support, and education of patients with IBD.

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BACKGROUND: Diabetic retinopathy (DR) is an important cause of decreased visual acuity, whose prevalence has increased between 1990 and 2020. In Chile the prevalence of diabetic retinopathy was estimated at 24.8%. AIM: To assess the prevalence of DR in a southern Chilean city. MATERIAL AND METHODS: From a database of diabetic patients attending primary health care centers at Puerto Montt, Chile, 196 patients with DR and 392 patients without DR, matched by age and presence of chronic complications, were chosen for this case-control study. RESULTS: The prevalence of DR in the database of diabetic patients was 33.3%. glycated hemoglobin, the frequency insulin use, systolic blood pressure, HDL cholesterol, microalbuminuria, and proteinuria were significantly worse in cases. A multivariate analysis showed that retinopathy is much more likely to occur when the variables insulin use, neuropathy, and microalbuminuria concur. CONCLUSIONS: DR was associated with worse metabolic parameters and the presence of neuropathy in this case control study.

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Dog and cat aggressions are public health concerns associated with rabies transmission to the human population. The social and environmental conditions of marginalized and urban areas stand a risk due to people's contact with dogs. This study aimed to identify spatial patterns related to dog and cat aggression in a densely populated area in the center of Mexico City, analyzing the risk of aggression at the census unit level in the 2018-2020 triennium. This cross-sectional study was carried out in Coyoacán, in the south-central area of Mexico City's urbanized region. The total number of cases (n = 1,078) was obtained from monthly records of aggressions by dogs and cats, from the Control and Prevention of Zoonoses-Rabies Program of the Coyoacán Sanitary Jurisdiction. The information collected was related to the victims and the aggressors. Associations between the occurrence of bites and the characteristics of the victim were evaluated using a geographic information system (GIS), as well as the spatio-temporal distribution of the aggressions to the census unit level. Out of 1,078 cases reported, 977 (90.6%) were caused by dogs and 101 (9.4%) by cats, 55.1% (n = 587) occurred within the same household, and 13.7% (n = 148) were categorized as severe injuries. Adult men were the most affected group. Attacks on the street had a higher risk of resulting in a severe injury, compared to those that occurred at home (OR 1.63, 95CI 1.15 - 2.31, p <0.006). According to the standardized rate of the triennium, the values ​​ranged between 54.1 and 619 aggressions per 100,000 inhabitants, and summer was the season with a higher probability of occurrence. These results provide a basis for the analytical investigation of the spatial patterns of dog and cat aggression, highlighting the need to implement efficient surveillance systems and public health strategies.

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Butterfly vertebras are an abnormal embryological formation of the spinal bodies that occur because of a lack of fusion of the chondrification centers of the vertebral bodies. Langerhans cell histiocytosis is an entity that frequently involves vertebral bodies resulting in flat vertebras, and recovery of the vertebral body height is a very unusual finding. We present a case report of a pediatric patient with a thoracic acquired butterfly vertebra which occurred secondary to a Langerhans cell histiocytosis involvement. It is extremely rare to find vertebra plana that regains its complete height but is even more infrequent to evidence of a butterfly vertebra deformity that is not congenital.

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INTRODUCTION: In Latin America and Colombia there are few studies about the clinical and therapeutic characteristics of patients with inflammatory bowel disease (IBD). The objective of this study is to obtain an approximation to these data from a sample of patients from different reference centres in Colombia. PATIENTS AND METHODS: Cross-sectional study in adult and paediatric patients, with IBD, attended ambulatory in 6 institutions in different cities, between 2017 and 2020 information was collected on different dates, about demographic, clinical, and therapeutic aspects. RESULTS: Six hundred and five subjects, 565 (93.4%) adults, mean age 43 years (SD 12.78), 64% with ulcerative colitis (UC). The age at diagnosis of UC was 41.9 years, while in Crohn's disease (CD) it was 47.9 years. In UC, there was greater left involvement (47.2%), and in CD, 42.8% ileocolonic (L3). More than 50% were in mild activity or clinical remission. In UC, the biologic requirement was 27.2%, while in CD, 78%. Overall hospitalisation requirement was 39.5%, and the need for surgery was 37.5% in UC and 62.5% in CD. Also, 40 pediatric patients, 90% female, with UC being more frequent (80%). In UC, 83.3% presented extensive colitis, and in CD, all with ileocolonic localization (L3). More than 95% were in mild activity or remission. Biologic therapy was required in 16.6% and 75% for UC and CD, respectively. The frequency of hospitalisations and surgery was 2.7%. CONCLUSIONS: This study shows some unique characteristics of patients with IBD in Colombia. An earlier diagnosis is required, with a better therapeutic approach.

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INTRODUCTION: There are no studies on efficacy of tofacitinib for ulcerative colitis (UC) in Latin America. The aim of this study was to describe the efficacy and safety, in the real world, of patients with moderate-severe UC treated with tofacitinib in our setting. MATERIALS AND METHODS: Multicenter descriptive observational study, in patients with UC who received treatment with tofacitinib in induction phase for 8 weeks and then, maintenance therapy, between June 2019 and June 2022. RESULTS: Thirty-four adult patients, 50% female, mean age 38.1 (range 22-72) years. 76.5% pancolitis, and 20.6% left colitis. 79.4% failure to tumor necrosis factor inhibitors (anti-TNFs), and 35.3% to vedolizumab. 14.7% naïve to biologic therapy. 23.5% had previous extraintestinal manifestations. During induction, 58.8% of patients achieved clinical, biochemical and endoscopic remission. During maintenance, 76.9% of patients at 26 weeks and 66.6% at 52 weeks presented clinical remission. Eight patients presented adverse events, none of them cardiovascular or thromboembolic. 44.1% were steroid-dependent, and 23.5% required steroids as rescue therapy. 38.3% required an increase in tofacitinib to 10mg every 12h during maintenance. In 17.6% tofacitinib was discontinued due to lack of efficacy. We included three pediatric-aged female patients, mean age 15.3 (range 14-17) years, 2/3 with pancolitis and 1/3 with left colitis, all with prior exposure to biologic therapy, who had clinical, biologic and endoscopic remission at induction. CONCLUSIONS: In this first Latin American study with tofacitinib in UC, efficacy and safety are demonstrated in the treatment of our patients with moderate to severe activity.

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BACKGROUND: Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common human dystrophinopathies with recessive X-linked inheritance. Dystrophin gene deletions and duplications are the most common mutations, followed by point mutations. The aim of this study is to characterize the mutational profile of the dystrophin gene in Colombian patients with DMD/BMD. MATERIAL AND METHODS: Mutational profiling was determined in 69 affected patients using Sanger sequencing, next-generation sequencing (NGS) and/or multiplex ligation dependent-probes amplification (MLPA). Genetic variants were classified according to molecular consequence and new variants were determined through database and literature analysis. RESULTS: Mutational profile in affected patients revealed that large deletions/duplications analyzed by MLPA accounted for 72.5% of all genetic variations. By using Sanger sequencing or NGS, we identified point mutations in 15.9% and small deletions in 11.6% of the patients. New mutations were found, most of them were point mutations or small deletions (10.1%). CONCLUSION: Our results described the genetic profile of the dystrophin gene in Colombian patients with DMD and contribute to efforts to identify molecular variants in Latin American populations. For our population, 18.8% of cases could be treated with FDA or MDA approved molecular therapies based on specific mutations. These data contribute to the establishment of appropriate genetic counseling and potential treatment.

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Resumen Objetivo: desde 2015, la Asociación Colombiana de Gastroenterología, con el apoyo del Instituto de Investigaciones Clínicas de la Universidad Nacional de Colombia, realizó la guía de práctica clínica para el diagnóstico y tratamiento de colitis ulcerativa. Desde la publicación de esta guía, han aparecido nuevas alternativas terapéuticas y nuevos conceptos sobre los objetivos del tratamiento, por lo cual se consideró necesaria su actualización. Materiales y métodos: esta actualización fue realizada por un equipo multi-disciplinario con apoyo de la Asociación Colombiana de Gastroenterología y el Instituto de Investigaciones Clínicas de la Universidad Nacional de Colombia. Se desarrollaron preguntas relevantes a nuevos tratamientos y vigilancia endoscópica de los pacientes adultos con colitis ulcerativa y se realizó la búsqueda de guías nacionales e internacionales en bases de datos especializadas. Las guías fueron evaluadas en términos de calidad y aplicabilidad. El Grupo Cochrane llevó a cabo la búsqueda sistemática de la literatura. Las tablas de evidencia y recomendaciones fueron realizadas usando la metodología GRADE. Resultados: se realizó una actualización de la guía para el tratamiento de la colitis ulcerativa en adultos en Colombia y se diseñaron nuevos algoritmos de tratamiento, teniendo en cuenta la extensión y la actividad de la enfermedad y los diferentes niveles de atención. Conclusiones: se estableció la importancia para el tratamiento de la evaluación clínica y endoscópica y se especificaron las indicaciones para el adecuado tratamiento de los pacientes con colitis ulcerativa. Adicionalmente, se dieron recomendaciones de vigilancia endoscópica de cáncer colorrectal y la importancia de la cromoendoscopia.

Abstract Objective: In 2015, the Asociación Colombiana de Gastroenterología (Colombian Association of Gastroenterology), with the support of the Institute of Clinical Research of the Universidad Nacional de Colombia, created the Clinical Practice Guideline for the diagnosis and treatment of ulcerative colitis. Since then, new therapeutic alternatives and concepts about treatment goals have emerged, making it necessary to update its contents. Materials and methods: The present update was carried out by a multidisciplinary team with support from the Asociación Colombiana de Gastroenterología and the Clinical Research Institute of the Universidad Nacional de Colombia. Questions regarding new treatments and endoscopic surveillance of adult patients with ulcerative colitis were developed, and national and international guidelines were searched in specialized databases. The guidelines were evaluated in terms of quality and applicability. The Cochrane Group conducted a systematic search of the existing literature, and evidence tables and recommendations were made using the GRADE methodology. Results: The guideline for the treatment of ulcerative colitis in adults in Colombia was updated, and new treatment algorithms were designed, taking into account the extent and activity of the disease and the different levels of care. Conclusions: The relevance of clinical and endoscopic assessment for treatment was established, and the indications for the proper management of patients with ulcerative colitis were specified. Furthermore, recommendations were made for endoscopic surveillance of colorectal cancer, and the importance of chromoendoscopy was established.

Assuntos

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Trigeminal Schwannomas are less than 1% of intracranial tumors, of which only 7% have a cystic component. We documented 2 cases of males with cystic trigeminal Schwannomas, their symptoms, the diagnosis process and the imaging characteristics. In addition, a review of the literature is performed, with emphasis on the radiological classification of this rare entity, that constitutes a diagnostic challenge for the radiologist, who has an essential role in the approach to the disease and therefore in its management.

RESUMO

The high tolerance of Litopenaeus vannamei to a wide range of salinity (1-50 psu) makes this species an excellent candidate for culture under low salinity, decreasing shrimp epidemics and water pollution in some coastal areas. However, salinity levels outside the optimal range could impose several physiological constraints that would in turn affect growth and survival, particularly in the presence of additional stressors (e.g. high densities, handling practices, and hypoxia). Despite shrimp susceptibility to individual stressors has been widely addressed, information regarding response to chronic and acute stressors combined and its relation to diet is scarce. Thus, the aim of our study was to determine the effect of diet on the susceptibility to chronic (low salinity) and acute (hypoxia and escape response) stressors in terms of culture performance and physiological indicators. We evaluated overall performance during culture of L. vannamei at low salinity (6 psu), fed with an experimental diet with low protein and high carbohydrate content (26% protein and 6% fish meal plus probiotic mixture) and compared to a commercial formula with high protein and low carbohydrate content (40% crude protein and 20% fish meal without probiotic mixture). At the end of the rearing experiment, shrimp were exposed to two types of acute stress, hypoxia and escape. Biochemical (hemocyanin, total proteins, glucose, and lactate) and bioenergetic (adenylic energy charge and arginine phosphate levels) variables were measured to assess chronic stress response (salinity) and acute stress response (hypoxia or escape). The experimental diet resulted in higher muscle energy status that was not affected by low salinity, although lipid levels were lower under this condition. This diet partially counteracted the low performance at low salinity and promoted greater protein efficiency. Hypoxia induced strong hyperglycemic and lactate increase as response, whereas escape response was characterized by a depletion of arginine phosphate levels, with a stronger decrease in shrimp fed experimental diet, due to the high initial level of this reserve. Some data (glucose levels in hemolymph and lipids in hepatopancreas) suggest that shrimp under chronic stress conditions (low salinity and high densities) present a low ability to respond to subsequent acute stressors such as hypoxia or escape. This work indicates that diet can increase the energy status of shrimp, enabling them to overcome potential multifactorial stressors, which are common in farming systems.